Canonical Allele Identifier: CA1339334663
Gene: AGXT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875991_240875992delinsTC , CM000664.2:g.240875991_240875992delinsTC GRCh38
NC_000002.11:g.241815408_241815409delinsTC , CM000664.1:g.241815408_241815409delinsTC GRCh37
NC_000002.10:g.241464081_241464082delinsTC NCBI36
NG_008005.1:g.12247_12248delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.833_834delinsTC MANE Select ENSP00000302620.3:p.Leu278=
ENST00000307503.3:c.833_834delinsTC ENSP00000302620.3:p.Leu278=
ENST00000476698.1:n.485_486delinsTC
NM_000030.2:c.833_834delinsTC NP_000021.1:p.Leu278=
NM_000030.3:c.833_834delinsTC MANE Select NP_000021.1:p.Leu278=
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